Skin Diseases Category (1969 diseases)


Including: Skin, Integument, Epidermis, Derma, Melanoma
See other categories (disease lists)

# Family MCID Name MIFTS
1 PLM102 Palmoplantar Keratoderma, Epidermolytic 47
2 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 43
3 CNG008 Congenital Ichthyosiform Erythroderma 61
4 EPD002 Epidermolytic Hyperkeratosis 56
5 P SYS005 Systemic Scleroderma 67
6 EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 52
7 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 41
8 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 46
9 P XRD010 Xeroderma Pigmentosum, Variant Type 62
10 SKN019 Skin Melanoma 63
11 SVR097 Severe Cutaneous Adverse Reaction 64
12 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 29
13 DYS002 Dysplastic Nevus Syndrome 36
14 ADR038 Adermatoglyphia 40
15 P EPD009 Epidermolysis Bullosa Dystrophica 59
16 c PLN018 Peeling Skin Syndrome 2 36
17 c XRD023 Xeroderma Pigmentosum, Complementation Group G 50
18 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 22
19 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 46
20 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 29
21 DRM014 Dermatofibrosarcoma Protuberans 63
22 P MLN066 Melanoma, Cutaneous Malignant 1 60
23 P DRM010 Dermatomyositis 65
24 c RCS002 Recessive Dystrophic Epidermolysis Bullosa 55
25 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 47
26 P DMN011 Dominant Dystrophic Epidermolysis Bullosa 29
27 FCL009 Focal Dermal Hypoplasia 57
28 ACR014 Acral Lentiginous Melanoma 49
29 P JNC001 Junctional Epidermolysis Bullosa 47
30 P DRM053 Dermatitis, Atopic 68
31 NVS017 Nevus, Epidermal 66
32 c XRD031 Xeroderma Pigmentosum, Complementation Group F 53
33 KND001 Kindler Syndrome 52
34 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 51
35 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 31
36 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 26
37 c LCL006 Localized Scleroderma 66
38 P XRD029 Xeroderma Pigmentosum, Complementation Group a 48
39 PKL001 Poikiloderma with Neutropenia 42
40 c PLN017 Peeling Skin Syndrome 1 35
41 INF057 Inflammatory Linear Verrucous Epidermal Nevus 25
42 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 55
43 P ICH004 Ichthyosis 54
44 c XRD030 Xeroderma Pigmentosum, Complementation Group C 52
45 EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 48
46 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 44
47 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42
48 c ATS013 Autosomal Recessive Congenital Ichthyosis 35
49 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 30
50 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 29
51 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
52 c ICH023 Ichthyosis, Acquired 26
53 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 25
54 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 24
55 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 24
56 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 21
57 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 20
58 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 17
59 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 16
60 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 15
61 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 70
62 PLM160 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 23
63 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 44
64 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 27
65 KRT022 Keratoderma Palmoplantar Spastic Paralysis 15
66 PLM135 Palmoplantar Keratoderma, Bothnian Type 33
67 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 51
68 P PLN008 Peeling Skin Syndrome 37
69 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 20
70 DGS008 Digestive System Melanoma 12
71 P DRM007 Dermatitis Herpetiformis 56
72 CTN004 Cutaneous Fibrous Histiocytoma 45
73 ATR054 Atrophoderma Vermiculata 26
74 PGM028 Pigmented Purpuric Dermatosis 21
75 PLM113 Palmoplantar Keratoderma-Sclerodactyly Syndrome 16
76 CHL028 Childhood Type Dermatomyositis 55
77 EPD029 Epidermolysis Bullosa Simplex, Generalized 44
78 PLM136 Palmoplantar Keratoderma, Nonepidermolytic 40
79 P XRD022 Xeroderma Pigmentosum, Complementation Group D 53
80 RST011 Restrictive Dermopathy, Lethal 45
81 c XRD021 Xeroderma Pigmentosum, Complementation Group E 43
82 UNN001 Unna-Thost Palmoplantar Keratoderma 13
83 NGL003 Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 11
84 NTR042 Neutrophilic Dermatosis, Acute Febrile 31
85 PRM139 Primary Melanoma of the Central Nervous System 9
86 SKN016 Skin Disease 68
87 CNT047 Contact Dermatitis 64
88 LPD014 Lipodermatosclerosis 42
89 PYG002 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 20
90 ERY049 Erythroderma, Lethal Congenital 18
91 c SBR001 Seborrheic Infantile Dermatitis 38
92 c MLN043 Melanoma, Cutaneous Malignant 8 26
93 CRN070 Corneodermatoosseous Syndrome 23
94 KRT023 Keratoderma Palmoplantaris Transgrediens 9
95 P VHW001 Vohwinkel Syndrome 41
96 PLM029 Palmoplantar Keratosis 41
97 P KRT018 Keratosis Palmoplantaris Striata Iii 16
98 ERY019 Erythroderma Desquamativa of Leiner 6
99 P RTH001 Rothmund-Thomson Syndrome 57
100 c EPD030 Epidermolysis Bullosa Simplex, Localized 44
101 EPD025 Epidermolysis Bullosa with Pyloric Atresia 29
102 c PLN021 Peeling Skin Syndrome 3 21
103 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 9
104 c XRD032 Xeroderma Pigmentosum, Complementation Group B 52
105 EPD001 Epidermodysplasia Verruciformis 52
106 c DRM054 Dermatitis, Atopic, 2 35
107 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 30
108 LNR005 Linear Scleroderma 26
109 P ATS068 Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 14
110 ATR020 Atrophoderma of Pierini and Pasini 9
111 P MLN069 Melanoma, Uveal 63
112 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 50
113 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 38
114 ERY060 Erythroderma, Ichthyosiform, Congenital Reticular 34
115 ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 31
116 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 23
117 P FCL023 Focal Facial Dermal Dysplasia 21
118 DRM042 Dermatoosteolysis, Kirghizian Type 20
119 PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 17
120 c XRD009 Xeroderma Pigmentosum, Type 9 7
121 P EPD003 Epidermolysis Bullosa Simplex 53
122 MLG005 Malignant Spindle Cell Melanoma 35
123 ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 34
124 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 30
125 P PLM174 Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 26
126 c KRT017 Keratosis Palmoplantaris Striata Ii 15
127 ECZ002 Eczema Herpeticum 49
128 LMT001 Limited Scleroderma 47
129 IRR003 Irritant Dermatitis 45
130 P INT080 Intraocular Melanoma 28
131 c DRM055 Dermatitis, Atopic, 3 21
132 SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 11
133 DGS002 Degos 'en Cocarde' Erythrokeratoderma 9
134 MLN008 Melanoma 72
135 P SKN013 Skin Benign Neoplasm 43
136 RTT001 Ritter's Disease 40
137 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 35
138 CLD014 Cole Disease 32
139 TRN029 Transient Bullous Dermolysis of the Newborn 29
140 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 26
141 PRN056 Parana Hard-Skin Syndrome 17
142 SPS197 Spastic Paraplegia with Neuropathy and Poikiloderma 16
143 c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 15
144 c PRM047 Primary Malignant Melanoma of the Cervix 10
145 STF002 Stiff Skin Syndrome 53
146 AML001 Amelanotic Melanoma 42
147 SKN005 Skin Atrophy 41
148 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 25
149 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 22
150 DRM006 Dermatitis 67
151 P SBR004 Seborrheic Dermatitis 40
152 LNT002 Lentigo Maligna Melanoma 36
153 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 31
154 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 27
155 DRM021 Dermatopathia Pigmentosa Reticularis 26
156 MLN070 Melanoma-Astrocytoma Syndrome 25
157 c MLN067 Melanoma, Cutaneous Malignant 2 20
158 c MLN075 Melanoma, Cutaneous Malignant 3 20
159 c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 19
160 c MLN077 Melanoma, Cutaneous Malignant 9 18
161 c MLN076 Melanoma, Cutaneous Malignant 5 16
162 c MLN042 Melanoma, Cutaneous Malignant 6 15
163 c DRM060 Dermatitis, Atopic, 8 13
164 GNR027 Generalized Peeling Skin Syndrome 11
165 c PST022 Posterior Uveal Melanoma 39
166 WRN004 Wrinkly Skin Syndrome 35
167 NRT002 Neurotic Excoriation 32
168 TXC003 Toxicodendron Dermatitis 29
169 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 14
170 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 11
171 DFF023 Diffuse Palmoplantar Keratoderma, Bothnian Type 7
172 P CTS001 Cutis Laxa 62
173 CRC001 Cercarial Dermatitis 37
174 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
175 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
176 PLM100 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 33
177 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
178 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
179 c EPD080 Epidermolysis Bullosa Simplex, Autosomal Recessive 1 31
180 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
181 c ACQ027 Acquired Cutis Laxa 29
182 c VHW003 Vohwinkel Syndrome, Variant Form 29
183 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 28
184 GRN032 Granulomatous Slack Skin Disease 28
185 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 25
186 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
187 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
188 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
189 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 23
190 SKN024 Skin Fragility-Woolly Hair Syndrome 22
191 EPD031 Epidermolysis Bullosa Simplex, Ogna Type 21
192 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20
193 EPD035 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 20
194 SPR033 Superficial Spreading Melanoma 20
195 c CTS031 Cutis Laxa, Autosomal Dominant 2 19
196 c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 19
197 c MLN074 Melanoma, Cutaneous Malignant 4 15
198 SKN073 Skint1-Like Pseudogene 8
199 LSH001 Leishmaniasis 71
200 ADL002 Adult Syndrome 48
201 SKN027 Skin Conditions 48
202 RYN003 Reynolds Syndrome 47
203 SKN022 Skin Squamous Cell Carcinoma 46
204 EPD022 Epidermolysis Bullosa Pruriginosa 38
205 BRB006 Barber-Say Syndrome 35
206 TNN002 Tinea Unguium 35
207 XRD027 Xeroderma Pigmentosum Group E 34
208 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 25
209 ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 23
210 FCL036 Focal Palmoplantar and Gingival Keratoderma 15
211 c DRM059 Dermatitis, Atopic, 7 13
212 c DRM058 Dermatitis, Atopic, 6 13
213 c DRM057 Dermatitis, Atopic, 5 13
214 c DRM061 Dermatitis, Atopic, 9 13
215 c DRM056 Dermatitis, Atopic, 4 13
216 LTN023 Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome 8
217 PYD001 Pyoderma Gangrenosum 55
218 NDL001 Nodular Malignant Melanoma 42
219 SKN018 Skin Hemangioma 40
220 MLG142 Malignant Conjunctival Melanoma 38
221 EPD033 Epidermolysis Bullosa, Lethal Acantholytic 38
222 ACR005 Acrodermatitis 35
223 SKN020 Skin Papilloma 34
224 DRM008 Dermatographia 32
225 KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 21
226 ATM026 Autoimmune Progesterone Dermatitis 19
227 EPD010 Epidermal Appendage Tumor 18
228 TRC111 Trichodysplasia-Xeroderma 18
229 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 17
230 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 15
231 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 12
232 RDS002 Red Skin Pigment Anomaly of New Guinea 11
233 ACQ008 Acquired Hyperkeratosis 11
234 MLG052 Malignant Cornea Melanoma 7
235 SKN004 Skin Amelanotic Melanoma 6
236 BLS002 Blastomycosis 44
237 SKN023 Skin Tag 41
238 OCL022 Ocular Melanoma 41
239 TNC003 Tinea Corporis 40
240 PLM137 Palmoplantar Keratoderma and Woolly Hair 35
241 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28
242 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
243 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
244 c FCL046 Focal Facial Dermal Dysplasia 4 23
245 EPD055 Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 18
246 EPD074 Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails 14
247 c MLN040 Melanoma, Cutaneous Malignant 7 14
248 KRT062 Keratoderma with Woolly Hair 10
249 c SCL052 Scleroderma, Familial Progressive 60
250 EPD016 Epidermolysis Bullosa 57
251 DRM011 Dermatophytosis 48
252 BLL007 Bullous Skin Disease 42
253 DRM009 Dermatomycosis 39
254 ACR097 Acrodermatitis Chronica Atrophicans 29
255 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 24
256 HRZ001 Huriez Syndrome 23
257 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 18
258 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 17
259 LKN004 Leukoencephalopathy Palmoplantar Keratoderma 15
260 SKN001 Skin Angiosarcoma 11
261 MLN065 Melanocytic Nevus Syndrome, Congenital 49
262 DFF003 Diffuse Scleroderma 44
263 c ADL027 Adult Dermatomyositis 41
264 PHT003 Phototoxic Dermatitis 39
265 TNC001 Tinea Cruris 33
266 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 33
267 OCC001 Occupational Dermatitis 32
268 MLG007 Malignant Skin Fibrous Histiocytoma 32
269 P PHT010 Photoparoxysmal Response 1 31
270 MLT104 Multiple Benign Circumferential Skin Creases on Limbs 26
271 PHT004 Photoallergic Dermatitis 25
272 ODN009 Odontoonychodermal Dysplasia 25
273 BSN001 Basan Syndrome 22
274 EPD082 Epidermolytic Nevus 22
275 LTN013 Late-Onset Focal Dermal Elastosis 22
276 MLG038 Malignant Anus Melanoma 21
277 SKN008 Skin Glomus Tumor 21
278 MLG070 Malignant Iris Melanoma 19
279 PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 19
280 PLM104 Palmoplantar Keratoderma, Nagashima Type 19
281 SCL001 Scalp Dermatosis 18
282 INF127 Infective Dermatitis Associated with Htlv-1 16
283 MNN010 Meningeal Melanoma 16
284 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 16
285 ERY005 Erythematosquamous Dermatosis 15
286 PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 15
287 MLG062 Malignant Ciliary Body Melanoma 15
288 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 14
289 DYS044 Dysmorphism Cleft Palate Loose Skin 13
290 MLG061 Malignant Choroid Melanoma 13
291 c MLG050 Malignant Granular Cell Skin Tumor 11
292 AGM003 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 10
293 P SKN009 Skin Granular Cell Tumor 10
294 c PLN027 Peeling Skin Syndrome Type C 9
295 c PHT011 Photoparoxysmal Response 3 9
296 c PHT009 Photoparoxysmal Response 2 9
297 MLN071 Melanoma Tumor Antigen Gp90 8
298 CHR448 Choroid Mixed Cell Melanoma 8
299 ESP016 Esophagus Melanoma 8
300 BSL002 Basaloid Squamous Cell Skin Carcinoma 8
301 RTN010 Retinal Melanoma 8
302 MXD040 Mixed Cell Uveal Melanoma 7
303 BNG008 Benign Dermal Neurilemmoma 7
304 RCT003 Rectum Malignant Melanoma 6
305 MLG008 Malignant Breast Melanoma 6
306 KZN001 Kuzniecky Andermann Syndrome 5
307 PLM046 Palmoplantar Keratoderma of Sybert 4
308 SKN026 Skin Cancer, Non Melanoma, Childhood 3
309 EPD070 Epidermoid Cysts 46
310 TNP001 Tinea Pedis 43
311 CHR463 Chronic Actinic Dermatitis 34
312 EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 32
313 MLN046 Melanoma-Associated Retinopathy 24
314 KSK002 Kosaki Overgrowth Syndrome 23
315 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
316 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 21
317 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 21
318 RMB001 Rombo Syndrome 20
319 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 20
320 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19
321 ELS003 Elastoderma 18
322 PLM172 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 18
323 SBR007 Seborrhea-Like Dermatitis with Psoriasiform Elements 16
324 IMM145 Immunodeficiency 11b with Atopic Dermatitis 16
325 c MLN055 Melanoma, Cutaneous Malignant 10 16
326 CNG265 Congenital Erosive and Vesicular Dermatosis 15
327 DFF018 Diffuse Dermal Angiomatosis 13
328 PYD002 Pyoderma 51
329 c DWL002 Dowling-Degos Disease 1 50
330 CHR100 Chronic Ulcer of Skin 46
331 P DWL001 Dowling-Degos Disease 43
332 KWS001 Kwashiorkor 43
333 TNC002 Tinea Capitis 40
334 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
335 CRD240 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 19
336 HYP346 Hypotrichosis and Recurrent Skin Vesicles 18
337 c PLN025 Peeling Skin Syndrome 5 18
338 c DWL003 Dowling-Degos Disease 2 17
339 DPD001 Deep Dermatophytosis 16
340 c DWL004 Dowling-Degos Disease 4 16
341 c DWL005 Dowling-Degos Disease 3 13
342 CHR011 Choroid Spindle Cell Melanoma 8
343 CLR002 Ciliary Body Spindle Cell Melanoma 8
344 SBC012 Subcorneal Pustular Dermatosis 46
345 ANG016 Angiokeratoma 38
346 MNN008 Meningeal Melanomatosis 38
347 MLN013 Melanoma Metastasis 37
348 VLV020 Vulvar Melanoma 37
349 PGM003 Pigmentation Disease 36
350 ACN003 Acneiform Dermatitis 34
351 CTN001 Cutaneous Solitary Mastocytoma 33
352 c DRM040 Dermatitis Herpetiformis, Familial 32
353 VSC012 Vesiculobullous Skin Disease 32
354 WND001 Wound Botulism 31
355 c PLN024 Peeling Skin Syndrome 4 30
356 EXF003 Exfoliative Dermatitis 28
357 TNM002 Tinea Manuum 25
358 ERS002 Erosive Pustular Dermatosis of the Scalp 25
359 SKN002 Skin Lipoma 24
360 ORB015 Orbital Melanoma 23
361 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 23
362 JNC002 Junctional Epidermolysis Bullosa Inversa 23
363 SKN010 Skin Epithelioid Hemangioma 22
364 SKN011 Skin Pilomatrix Carcinoma 22
365 TNB001 Tinea Barbae 22
366 PSD105 Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis 22
367 GRW032 Growth Factors, Combined Defect of 22
368 FCL001 Facial Dermatosis 21
369 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
370 EPT001 Epithelioid Cell Melanoma 20
371 HND001 Hand Dermatosis 19
372 LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18
373 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
374 HRD113 Hereditary Acrokeratotic Poikiloderma, Weary Type 18
375 P PRM145 Primary Anetoderma 18
376 GLL012 Gallbladder Melanoma 17
377 PRC021 Parc Syndrome 16
378 ACR111 Acrokeratoderma, Hereditary Papulotranslucent 16
379 DRM019 Dermatoleukodystrophy 16
380 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 16
381 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 15
382 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 15
383 EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 15
384 SPN025 Spinal Cord Melanoma 14
385 c FML205 Familial Anetoderma 14
386 EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 14
387 PKL003 Poikiloderma, Hereditary Sclerosing 13
388 LGD001 Leg Dermatosis 13
389 JSS002 Jessner Lymphocytic Infiltration of the Skin 13
390 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 11
391 DFF028 Diffuse Leptomeningeal Melanocytosis 11
392 CND003 Candidal Paronychia 11
393 c MLN039 Melanoma, Uveal 1 11
394 ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 11
395 ADM002 Adamantinoid Basal Cell Epithelioma 11
396 SKN017 Skin Glomangioma 10
397 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 10
398 c MLN041 Melanoma, Uveal 2 10
399 VSC009 Vascular Skin Disease 10
400 CHR045 Choroid Necrotic Melanoma 10
401 MLG010 Malignant Eyelid Melanoma 9
402 MGR041 Megarbane-Jalkh Syndrome 9
403 ECC006 Eccrine Mixed Tumor of Skin 9
404 ALL005 Allergic Contact Dermatitis of Eyelid 8
405 PDT007 Pediatric Leptomeningeal Melanoma 8
406 ADL009 Adult Leptomeningeal Melanoma 8
407 NNN006 Noninfectious Dermatoses of Eyelid 7
408 PRN012 Perianal Skin Paget's Disease 7
409 CHR014 Choroid Epithelioid Cell Melanoma 7
410 DRM002 Dermoid Cyst of Skin 7
411 DRM001 Dermal Unilateral Segmental Cavernous Angioma 7
412 ACN008 Acantholytic Squamous Cell Skin Carcinoma 7
413 CLR010 Clear Cell Squamous Cell Skin Carcinoma 7
414 SKN007 Skin Meningioma 6
415 PSD011 Pseudovascular Skin Squamous Cell Carcinoma 6
416 SQM001 Squamous Cell Papilloma of Skin 6
417 PGM025 Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 6
418 UVL002 Uveal Epithelioid Cell Melanoma 5
419 SCR012 Scrotum Melanoma 5
420 FLL049 Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 4
421 HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 4
422 c XRD005 Xeroderma Pigmentosum, Type 2 4
423 MSM009 Mesomelic Dysplasia Skin Dimples 3
424 LKM007 Leukomelanoderma Mental Redardation Hypotrichosis 3
425 MLG096 Malignant Melanoma, Childhood 2
426 PRM048 Primary Malignant Melanoma of the Conjunctiva 2
427 CDK001 Cdk4 Linked Melanoma 2
428 XRD011 Xeroderma Talipes Enamel Defects 2
429 TRC043 Tricho Odonto Onycho Dermal Syndrome 2
430 DRM018 Dermatocardioskeletal Syndrome Boronne Type 2
431 PNC058 Punctate Acrokeratoderma Freckle Like Pigmentation 2
432 MCS004 Mucosal Melanoma 47
433 MLT016 Multicentric Reticulohistiocytosis 47
434 P NLD001 Nail Disease 47
435 ACT167 Acute Generalized Exanthematous Pustulosis 42
436 CHN002 Chancroid 39
437 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 38
438 DRM003 Dermatosis Papulosa Nigra 38
439 CNT001 Contagious Pustular Dermatitis 37
440 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 33
441 c BRT028 Brittle Cornea Syndrome 1 31
442 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 30
443 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 27
444 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 27
445 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
446 VRR003 Verruciform Xanthoma of Skin 22
447 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 21
448 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 19
449 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 19
450 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 17
451 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 16
452 PRK047 Porokeratotic Eccrine Ostial and Dermal Duct Nevus 16
453 c PLY147 Polydactyly, Postaxial, Type A1 43
454 SQM002 Squamous Cell Papilloma 39
455 P INT283 Integumentary System Cancer 33
456 P ANG013 Angioma Serpiginosum 30
457 PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 24
458 ATM016 Autoimmune Disease of Skin and Connective Tissue 24
459 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 22
460 EPD004 Epidermolytic Acanthoma 21
461 c INT282 Integumentary System Benign Neoplasm 20
462 CLL040 Callosities, Hereditary Painful 19
463 CMP060 Complement Component 9 Deficiency 18
464 EHL015 Ehlers-Danlos Syndrome Progeroid Type 18
465 ECC003 Eccrine Papillary Adenoma 16
466 c PLY163 Polydactyly, Postaxial, Type A2 16
467 FCL040 Focal Acral Hyperkeratosis 16
468 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
469 c PLY103 Polydactyly, Postaxial, Type A5 15
470 c PLY101 Polydactyly, Postaxial, Type A6 14
471 TNP002 Tinea Profunda 14
472 c PLY144 Polydactyly, Postaxial, Type A7 14
473 c PLY054 Polydactyly, Postaxial, Type A4 13
474 c PLY053 Polydactyly, Postaxial, Type A3 11
475 P PST079 Postaxial Polydactyly of Toes 10
476 TBR027 Tuberculin Skin Test Reactivity Quantitative Trait Locus 9
477 TBR017 Tuberculin Skin Test Reactivity, Absence of 9
478 IRS001 Iris Spindle Cell Melanoma 7
479 DRM047 Dermatoglyphics--Arch on Any Digit 7
480 PST011 Pustulosis of Palm and Sole 47
481 CMP007 Complement Component 5 Deficiency 40
482 MYX013 Myxofibrosarcoma 39
483 SKN006 Skin Sarcoidosis 39
484 GRN003 Granulomatous Dermatitis 38
485 SBC009 Sebaceous Adenoma 37
486 MLN002 Melanomatosis 35
487 SNL003 Senile Angioma 35
488 NRD001 Neurodermatitis 34
489 CTN012 Cutaneous Leiomyosarcoma 33
490 STR096 Striate Palmoplantar Keratoderma 33
491 HDR001 Hidrocystoma 31
492 MDD015 Mid-Dermal Elastolysis 31
493 OVR104 Ovarian Melanoma 30
494 c JVN011 Juvenile Dermatitis Herpetiformis 27
495 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 27
496 CTN010 Cutaneous Ganglioneuroma 26
497 P PNC113 Punctate Palmoplantar Keratoderma 25
498 SHH004 Shaheen Syndrome 23
499 ECC002 Eccrine Acrospiroma 23
500 BLL002 Balloon Cell Malignant Melanoma 21
501 LMY001 Leiomyoma Cutis 21
502 SPN011 Spongiotic Dermatitis 20
503 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20
504 c RTH005 Rothmund-Thomson Syndrome Type 2 19
505 DRM046 Dermal Ridges-off-the-End 19
506 LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 19
507 c RTH004 Rothmund-Thomson Syndrome Type 1 17
508 RSS027 Russell-Silver Syndrome, X-Linked 17
509 EPD052 Epidermolysis Bullosa Simplex Superficialis 17
510 DWR019 Dwarfism with Stiff Joints and Ocular Abnormalities 17
511 c DMN009 Dominant Ichthyosis Vulgaris 17
512 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 16
513 KRT066 Keratosis, Focal Palmoplantar and Gingival 16
514 LNR009 Linear Atrophoderma of Moulin 15
515 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 14
516 KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 14
517 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 14
518 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 14
519 ATX046 Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 13
520 LNR017 Linear Focal Elastosis 13
521 PTT039 Pituitary Dermoid and Epidermoid Cysts 13
522 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 13
523 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
524 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 12
525 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 12
526 ATR090 Atrophia Maculosa Varioliformis Cutis, Familial 11
527 SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 11
528 MTP037 Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia 11
529 PSD110 Pseudoatrophoderma Colli 11
530 ACR075 Acral Dystrophic Epidermolysis Bullosa 10
531 XRD028 Xeroderma Pigmentosum, Autosomal Dominant, Mild 10
532 EPD079 Epidermodysplasia Verruciformis, X-Linked 10
533 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 9
534 DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 9
535 NNT046 Neonatal Dermatomyositis 9
536 EPD078 Epidermolysis Bullosa with Diaphragmatic Hernia 9
537 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 9
538 DMN044 Dominant Dystrophic Epidermolysis Bullosa, Nails Only 9
539 P CRV009 Cervix Melanoma 8
540 c MLN068 Melanoma, Malignant Familial Intraocular 8
541 NCR008 Necrotic Uveal Melanoma 8
542 DRM045 Dermal Ridges, Patternless 8
543 EPD073 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 7
544 CTN008 Cutaneous Liposarcoma 7
545 DRM044 Dermal Ridges, Nelson Syndrome 7
546 NNT043 Neonatal Scleroderma 7
547 DRM051 Dermatoglyphics--Palmar Triradius D, Absence of 7
548 INF163 Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome 7
549 DRM052 Dermatoglyphics--Hypothenar Radial Arch 7
550 DRM049 Dermatoglyphics--Fingerprint Pattern 7
551 HST020 Histiocytic Dermatoarthritis 7
552 PRT089 Partial Deep Dermal and Full Thickness Burns 6
553 XRD002 Xeroderma of Eyelid 6
554 ECZ001 Eczematous Dermatitis of Eyelid 6
555 IRS002 Iris Mixed Cell Melanoma 6
556 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
557 CLR008 Ciliary Body Mixed Cell Melanoma 6
558 CLR004 Ciliary Body Epithelioid Cell Melanoma 6
559 NVD002 Nevada Syndrome 6
560 END012 Endometriosis in Scar of Skin 5
561 PLN004 Plantar Verrucous Skin Carcinoma 5
562 DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 4
563 MLG109 Malignant Melanoma of the Mucosa 4
564 DRM048 Dermatoglyphics--Finger Ridge Count 3
565 LCL021 Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 3
566 EPD026 Epidermal Nevus Vitamin D Resistant Rickets 2
567 PSR001 Psoriatic Arthritis 66
568 c LPM012 Lipomatosis, Multiple 64
569 c MCP049 Mucopolysaccharidosis, Type Vii 64
570 P EXN002 Exanthem 62
571 c MCP024 Mucopolysaccharidosis Type Vi 61
572 P EHL001 Ehlers-Danlos Syndrome 61
573 P MCP040 Mucopolysaccharidosis-Plus Syndrome 61
574 c MCP004 Mucopolysaccharidosis Iv 60
575 URT039 Urticaria 59
576 P LCH002 Lichen Planus 58
577 RSC001 Rosacea 58
578 P OCL002 Oculocutaneous Albinism 57
579 P LPD010 Lipodystrophy 57
580 P ANG015 Angioedema 57
581 c MCP001 Mucopolysaccharidosis Iii 56
582 P ACT008 Actinic Keratosis 56
583 P CNG411 Congenital Disorder of Glycosylation, Type in 55
584 c CWD006 Cowden Syndrome 1 54
585 CLL003 Cellulitis 53
586 P CTN003 Cutaneous Lupus Erythematosus 53
587 KRT009 Keratosis 53
588 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
589 P HRD018 Hair Disease 53
590 c MCP043 Mucopolysaccharidosis, Type Iiia 52
591 NNT012 Neonatal Jaundice 51
592 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51
593 P LPM005 Lipomatosis 50
594 HNN001 Hennekam Syndrome 50
595 FLL008 Folliculitis 50
596 P APL006 Aplasia Cutis Congenita 50
597 P WLL002 Weill-Marchesani Syndrome 50
598 HYP077 Hypertrichosis 49
599 DSC009 Discoid Lupus Erythematosus 48
600 c JVN003 Juvenile Xanthogranuloma 48
601 PNN001 Panniculitis 48
602 HYP457 Hypertrophic Scars 48
603 CRB016 Carbuncle 48
604 c ANG068 Angioedema, Hereditary, Type I 48
605 P KRN004 Kernicterus 48
606 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
607 HDR003 Hidradenitis 47
608 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
609 c CHL140 Chilblain Lupus 1 46
610 IMP004 Impetigo 45
611 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45
612 ANH002 Anhidrosis 45
613 c MCP044 Mucopolysaccharidosis, Type Iiib 45
614 PTY001 Pityriasis Rosea 45
615 PRN049 Paraneoplastic Pemphigus 45
616 c ACQ012 Acquired Angioedema 45
617 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 44
618 DCB001 Decubitus Ulcer 44
619 c MCP047 Mucopolysaccharidosis, Type Iva 44
620 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
621 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
622 LCH004 Lichen Disease 42
623 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
624 PRP056 Porphyria, Acute Hepatic 41
625 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41
626 BLL012 Bullous Impetigo 40
627 c PSR017 Psoriasis 2 40
628 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
629 P FRN036 Frontonasal Dysplasia 1 39
630 AND014 Androgenic Alopecia 39
631 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 39
632 c TYP003 Type I Ehlers-Danlos Syndrome 39
633 c PSR018 Psoriasis 13 39
634 c PSR023 Psoriasis 1 38
635 ECT004 Ecthyma 38
636 c SBC035 Subacute Cutaneous Lupus Erythematosus 37
637 c PSR028 Psoriasis 7 37
638 HRP002 Herpes Gestationis 37
639 DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 37
640 RTC008 Reticulate Acropigmentation of Kitamura 37
641 MND025 Mandibulofacial Dysostosis with Alopecia 37
642 HYP022 Hypohidrosis 36
643 ATR013 Atrichia with Papular Lesions 36
644 c LCL022 Localized Lipodystrophy 36
645 LCH016 Lichen Sclerosus Et Atrophicus 36
646 c MCP051 Mucopolysaccharidosis, Type Ix 35
647 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
648 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
649 NVS007 Nevus of Ota 35
650 c PSR032 Psoriasis 11 35
651 c MCP045 Mucopolysaccharidosis, Type Iiic 35
652 c CNG379 Congenital Disorder of Glycosylation, Type It 34
653 TRM011 Terminal Osseous Dysplasia 34
654 c APL023 Aplasia Cutis Congenita, Nonsyndromic 34
655 c EHL088 Ehlers-Danlos Syndrome Type 2 34
656 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 34
657 FLL019 Follicular Mucinosis 34
658 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
659 LCH003 Lichen Nitidus 33
660 LCH014 Lichen Amyloidosis 33
661 PSD016 Pseudosarcomatous Fibromatosis 32
662 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 32
663 c WLL036 Weill-Marchesani Syndrome 1 32
664 c MCP046 Mucopolysaccharidosis, Type Iiid 32
665 c MCP048 Mucopolysaccharidosis, Type Ivb 32
666 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
667 SLR005 Solar Urticaria 32
668 FLL042 Folliculotropic Mycosis Fungoides 31
669 MLR009 Miliaria 31
670 INV005 Inverted Follicular Keratosis 31
671 PMP010 Pompholyx 31
672 ERY002 Erythema Infectiosum 31
673 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
674 PMP009 Pemphigus Erythematosus 31
675 c PRP091 Porphyria Cutanea Tarda, Type I 31
676 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
677 MLR001 Miliaria Rubra 31
678 TKN001 Takenouchi-Kosaki Syndrome 30
679 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
680 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
681 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
682 SCL002 Scleredema Adultorum 30
683 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 30
684 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
685 PHY008 Physical Urticaria 30
686 c WLL037 Weill-Marchesani Syndrome 2 30
687 TLG001 Telogen Effluvium 30
688 PRP093 Pierpont Syndrome 30
689 PPL017 Papillary Hidradenoma 30
690 c ALB019 Albinism, Oculocutaneous, Type Iv 30
691 ACR004 Acrokeratosis Verruciformis 30
692 MLN005 Melanoacanthoma 30
693 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
694 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
695 c CNG188 Congenital Disorder of Glycosylation, Type if 29
696 IMP001 Impetigo Herpetiformis 29
697 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
698 LRY022 Laryngoonychocutaneous Syndrome 29
699 BNG069 Benign Cephalic Histiocytosis 29
700 DRG013 Drug-Induced Lupus Erythematosus 29
701 PMP008 Pemphigus Vegetans 29
702 P PLT008 Pili Torti 29
703 CHL035 Cholinergic Urticaria 29
704 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
705 FNT005 Fontaine Progeroid Syndrome 28
706 c ALB015 Albinism, Oculocutaneous, Type V 28
707 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
708 NDL010 Nodular Hidradenoma 28
709 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
710 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
711 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 27
712 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
713 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
714 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
715 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
716 c ALB017 Albinism, Oculocutaneous, Type Vi 26
717 c CWD007 Cowden Syndrome 3 26
718 KRT047 Keratosis Pilaris Atrophicans 26
719 c ANG045 Angioedema, Hereditary, Type Iii 26
720 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
721 KPP002 Keppen-Lubinsky Syndrome 26
722 CLC064 Calcifying Aponeurotic Fibroma 26
723 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
724 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
725 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
726 PRM206 Premature Aging Syndrome, Penttinen Type 25
727 ANG062 Angioosteohypertrophic Syndrome 25
728 P ADL037 Adult Xanthogranuloma 25
729 c FRN033 Frontonasal Dysplasia 2 25
730 CLR013 Clear Cell Hidradenoma 25
731 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
732 PSD078 Pseudofolliculitis Barbae 25
733 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
734 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
735 PHK008 Phakomatosis Cesioflammea 25
736 P PRD037 Periodontal Ehlers-Danlos Syndrome 25
737 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 25
738 DGT002 Digital Clubbing, Isolated Congenital 25
739 P TRC031 Trichorhinophalangeal Syndrome 25
740 SLF015 Self-Improving Collodion Baby 24
741 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
742 c WLL011 Weill-Marchesani-Like Syndrome 24
743 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 24
744 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
745 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
746 P PPL026 Papular Mucinosis 23
747 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
748 ULC005 Ulcer of Lower Limbs 23
749 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
750 c CWD004 Cowden Syndrome 5 23
751 PRG077 Progressive Nodular Histiocytosis 23
752 MNG001 Mongolian Spot 23
753 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 23
754 c CWD008 Cowden Syndrome 6 23
755 MCL047 Macular Amyloidosis 23
756 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
757 DRM043 Dermochondrocorneal Dystrophy 23
758 c ALB016 Albinism, Oculocutaneous, Type Vii 23
759 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
760 GNR023 Generalized Eruptive Histiocytosis 22
761 HRP026 Herpetiform Pemphigus 22
762 c WLL038 Weill-Marchesani Syndrome 3 22
763 c FML324 Familial Porphyria Cutanea Tarda 22
764 EXF002 Exfoliative Ichthyosis 22
765 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 22
766 P CTS012 Cutis Verticis Gyrata 22
767 c FRN032 Frontonasal Dysplasia 3 22
768 c EHL065 Ehlers-Danlos Syndrome, Type V 21
769 c PLT022 Pili Torti, Early-Onset 21
770 VLV046 Vulvovaginal Gingival Syndrome 21
771 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21
772 BLL015 Bullous Lichen Planus 21
773 VLV039 Vulvar Seborrheic Keratosis 21
774 TLN007 Telangiectasia, Hereditary Benign 21
775 CYT017 Cytophagic Histiocytic Panniculitis 21
776 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
777 c CWD009 Cowden Syndrome 7 20
778 GNR033 Generalized Eruptive Keratoacanthoma 20
779 ERY010 Erythrasma 20
780 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
781 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 20
782 GRM003 German Syndrome 20
783 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 20
784 OCL057 Oculotrichodysplasia 19
785 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
786 DFF009 Diffuse Lipomatosis 19
787 IND009 Indeterminate Cell Histiocytosis 19
788 BSL041 Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 19
789 LPS018 Lupus Erythematosus Panniculitis 19
790 TRC114 Trichodental Dysplasia 19
791 HST018 Histiocytosis, Progressive Mucinous 19
792 CTN005 Cutaneous Diphtheria 19
793 LDW001 Ludwig's Angina 18
794 CRN224 Craniofaciofrontodigital Syndrome 18
795 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 18
796 HYP641 Hypotrichosis Simplex of the Scalp 18
797 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18
798 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 18
799 c CWD005 Cowden Syndrome 4 18
800 c CWD003 Cowden Syndrome 2 18
801 PPL038 Papular Xanthoma 18
802 CNJ004 Conjunctival Pigmentation 18
803 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 18
804 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 18
805 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 18
806 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
807 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17
808 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
809 TLN012 Telangiectasia Macularis Eruptiva Perstans 17
810 DRM038 Dermotrichic Syndrome 17
811 ELS004 Elastofibroma Dorsi 17
812 LNR012 Linear Verrucous Nevus Syndrome 16
813 c HRN019 Hair-an Syndrome 16
814 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
815 c PSR025 Psoriasis 4 16
816 c CHL114 Chilblain Lupus 2 16
817 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 16
818 VRS002 Virus-Associated Trichodysplasia Spinulosa 16
819 ANT063 Anti-P200 Pemphigoid 16
820 c PSR026 Psoriasis 5 16
821 CHN047 Chondroectodermal Dysplasia with Night Blindness 16
822 CTN031 Cutaneous Pseudolymphoma 16
823 ERY050 Erythema Palmare Hereditarium 16
824 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 15
825 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 15
826 MDS003 Mediastinal Lipomatosis 15
827 PPL044 Papular Elastorrhexis 15
828 CNG248 Congenital Smooth Muscle Hamartoma 15
829 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 15
830 WRT005 Warty Dyskeratoma 15
831 ONY005 Onychomatricoma 14
832 P NDL017 Nodular Cutaneous Amyloidosis 14
833 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 14
834 ATS182 Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly 14
835 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 14
836 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 14
837 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
838 ANN015 Anonychia with Flexural Pigmentation 13
839 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 13
840 LCL017 Localized Pagetoid Reticulosis 13
841 BLL014 Bullous Diffuse Cutaneous Mastocytosis 13
842 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 13
843 CNG238 Congenital Panfollicular Nevus 13
844 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 13
845 ACR078 Acral Self-Healing Collodion Baby 13
846 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 12
847 c ACQ026 Acquired Pseudoxanthoma Elasticum 12
848 13Q001 13q12.3 Microdeletion Syndrome 12
849 c PSR029 Psoriasis 9 12
850 c PSR027 Psoriasis 6 12
851 PLB003 Pili Bifurcati 12
852 c LCH017 Lichen Planus, Familial 12
853 9Q3002 9q33.3q34.11 Microdeletion Syndrome 12
854 ACR080 Acral Persistent Papular Mucinosis 12
855 c ACQ036 Acquired Angioedema Type 2 12
856 CNG467 Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome 11
857 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 11
858 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 11
859 c PSR024 Psoriasis 3 11
860 PHK006 Phakomatosis Pigmentokeratotica 11
861 PRM233 Primary Cutaneous Plasmacytosis 11
862 INF022 Inflamed Seborrheic Keratosis 11
863 c KRT070 Keratosis, Familial Actinic 11
864 PLG007 Pili Gemini 11
865 CRC033 Circumscribed Palmoplantar Hypokeratosis 11
866 WHT012 White Fibrous Papulosis of the Neck 11
867 HMN008 Hemangioma of Subcutaneous Tissue 10
868 c KRN003 Kernicterus Due to Isoimmunization 10
869 c PSR031 Psoriasis 10 10
870 c PSR030 Psoriasis 8 10
871 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 10
872 SLF008 Self-Healing Papular Mucinosis 10
873 c PSR033 Psoriasis 12 9
874 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
875 GRN047 Granulomatous Disease with Defect in Neutrophil Chemotaxis 9
876 c PRM185 Primary Essential Cutis Verticis Gyrata 9
877 DDY001 Didymosis Aplasticosebacea 9
878 P APL009 Aplasia Cutis Congenita of Limbs Recessive 9
879 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
880 DSC010 Discrete Papular Lichen Myxedematosus 9
881 c PPL045 Papular Mucinosis of Infancy 9
882 AMY054 Amyloidosis Cutis Dyschromia 8
883 NDL018 Nodular Urticaria Pigmentosa 8
884 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
885 CHL020 Cholesteatoma of Attic 8
886 MXL007 Maxillary Sinus Cholesteatoma 8
887 PHK009 Phakomatosis Cesiomarmorata 8
888 CLC050 Calciphylaxis Cutis 8
889 ATY027 Atypical Lichen Myxedematosus 8
890 c ACQ035 Acquired Angioedema Type 1 8
891 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
892 STR006 Stromal Corneal Pigmentation 7
893 PHK010 Phakomatosis Spilorosea 7
894 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
895 NDL019 Nodular Lichen Myxedematosus 6
896 ANG056 Angora Hair Nevus 6
897 FBR006 Fibroepithelial Polyp of the Anus 6
898 TYP022 Typical Urticaria Pigmentosa 6
899 PLQ001 Plaque-Form Urticaria Pigmentosa 6
900 FBR005 Fibroepithelial Polyp of Urethra 6
901 VLV014 Vulva Fibroepithelial Polyp 6
902 c RRL001 Rare Lichen Planus 5
903 FXD002 Fixed Pigmented Erythema 5
904 VLV007 Vulvar Inverted Follicular Keratosis 5
905 c AMY014 Amyloidosis Nodular Localized Cutaneous 4
906 LKN022 Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome 4
907 CNF001 Confetti-Like Macular Atrophy 4
908 LCL018 Localized Lichen Myxedematosus with Mixed Features of Different Subtypes 4
909 LCL019 Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms 4
910 SCL040 Scleromyxedema Without Monoclonal Gammopathy 4
911 ACQ032 Acquired Kinky Hair Syndrome 4
912 HYP503 Hypertrophic or Verrucous Lupus Erythematosus 4
913 STR010 Steroid Lipomatosis 4
914 c BCT003 Bacterial Exanthem 3
915 c APL010 Aplasia Cutis Congenita Recessive 3
916 c APL007 Aplasia Cutis Congenita Dominant 3
917 KRT058 Keratoderma, Palmoplantar, with Deafness 27
918 BSC001 Buschke-Ollendorff Syndrome 48
919 NXS001 Naxos Disease 47
920 GRD006 Geroderma Osteodysplastica 25
921 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 43
922 CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 40
923 ALL010 Allergic Contact Dermatitis 60
924 SQM006 Squamous Cell Carcinoma 74
925 MJD001 Majeed Syndrome 35
926 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 26
927 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 18
928 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 51
929 BZX001 Bazex Syndrome 43
930 MLN047 Melanoma-Pancreatic Cancer Syndrome 22
931 EPD081 Epidermoid Brain Cyst 12
932 MLD006 Mal De Meleda 39
933 GMZ002 Gomez-Lopez-Hernandez Syndrome 29
934 BCK005 Becker Nevus Syndrome 28
935 AQG003 Aquagenic Syringeal Acrokeratoderm 12
936 NTH001 Netherton Syndrome 60
937 EPD006 Epidermolysis Bullosa Acquisita 50
938 EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 40
939 NDL009 Nodular Basal Cell Carcinoma 36
940 KRT013 Keratolytic Winter Erythema 27
941 DFF035 Diffuse Cutaneous Systemic Sclerosis 53
942 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 51
943 ICH002 Ichthyosis Bullosa of Siemens 48
944 c CLR017 Clear Cell Sarcoma 50
945 BRK001 Brooke-Spiegler Syndrome 45
946 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 36
947 P SML002 Small Cell Sarcoma 35
948 GNT018 Gianotti Crosti Syndrome 23
949 LNR006 Linear Iga Disease 44
950 SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 31
951 GRD005 Geroderma Osteodysplasticum 29
952 BLL017 Bullous Dystrophy, Hereditary Macular Type 24
953 MTT001 Metatypical Basal Cell Carcinoma 19
954 JNS005 Jones Hersh Yusk Syndrome 10
955 ABL002 Ablepharon-Macrostomia Syndrome 55
956 CTN013 Cutaneous Anthrax 35
957 GRV012 Grover's Disease 33
958 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 32
959 GNT020 Giant Congenital Nevus 31
960 BLL006 Bullous Pemphigoid 64
961 BLM001 Bloom Syndrome 62
962 ERY003 Erythema Multiforme 60
963 P CRN038 Carney Complex Variant 59
964 CHN055 Chanarin-Dorfman Syndrome 51
965 MCS006 Macs Syndrome 45
966 c PSR021 Psoriasis 14, Pustular 44
967 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 42
968 P PST059 Pustular Psoriasis 40
969 c CRN243 Carney Complex, Type 1 35
970 c SKN012 Skin Carcinoma in Situ 33
971 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26
972 ECT073 Ectodermal Dysplasia/short Stature Syndrome 21
973 ABS001 Absence of Fingerprints Congenital Milia 19
974 c PSR022 Psoriasis 15, Pustular 16
975 c CRN298 Carney Complex, Type 2 13
976 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 63
977 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60
978 c FNC042 Fanconi Anemia, Complementation Group D2 56
979 P FNC043 Fanconi Anemia, Complementation Group E 52
980 PPL049 Papillon-Lefevre Syndrome 50
981 P ICH001 Ichthyosis Vulgaris 47
982 PGT003 Paget Disease, Extramammary 44
983 CRS005 Crest Syndrome 43
984 c FNC045 Fanconi Anemia, Complementation Group F 35
985 CHL122 Cholesteatoma of Middle Ear 35
986 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 33
987 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
988 CTN009 Cutaneous Adenocystic Carcinoma 30
989 c FNC024 Fanconi Anemia, Complementation Group D1 28
990 ECC008 Eccrine Sweat Gland Neoplasm 26
991 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 20
992 TCH005 Tièche-Jadassohn Nevus 19
993 CTN002 Cutaneous Mucoepidermoid Carcinoma 19
994 BRS103 Bier Spots 14
995 PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 12
996 JDG001 Judge Misch Wright Syndrome 7
997 GRR001 Garret Tripp Syndrome 5
998 c BSL007 Basal Cell Carcinoma 66
999 PMS001 Poems Syndrome 64
1000 P SML001 Small Cell Carcinoma 58
1001 P BRT029 Brittle Cornea Syndrome 2 50
1002 c LRG001 Large Cell Carcinoma 50
1003 HYP691 Hypomelanosis of Ito 49
1004 MLT152 Multiple Self-Healing Squamous Epithelioma 44
1005 c BSL024 Basal Cell Carcinoma 1 42
1006 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 40
1007 c CLL013 Cell Type Cancer 37
1008 PRP005 Parapsoriasis 36
1009 SCH038 Schopf-Schulz-Passarge Syndrome 35
1010 c BSL011 Basal Cell Carcinoma, Multiple 34
1011 OCL034 Oculocerebrocutaneous Syndrome 33
1012 c CLL012 Cell Type Benign Neoplasm 32
1013 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 32
1014 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
1015 HMM002 Haim-Munk Syndrome 31
1016 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
1017 BDN002 Bednar Tumor 26
1018 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 23
1019 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
1020 c BSL034 Basal Cell Carcinoma 7 13
1021 c BSL028 Basal Cell Carcinoma 5 12
1022 c BSL029 Basal Cell Carcinoma 6 11
1023 c BSL027 Basal Cell Carcinoma 4 11
1024 c BSL026 Basal Cell Carcinoma 3 11
1025 c BSL025 Basal Cell Carcinoma 2 11
1026 YSH001 Yusho Disease 11
1027 NLS001 Nelson Syndrome 49
1028 P SYR003 Syringoma 41
1029 P SPR013 Spiradenoma 39
1030 HLN001 Halo Nevi 33
1031 CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 31
1032 VLV034 Vulva Squamous Cell Carcinoma 31
1033 c MLG036 Malignant Spiradenoma 31
1034 c MLG049 Malignant Syringoma 29
1035 CNJ018 Conjunctival Squamous Cell Carcinoma 28
1036 PNC060 Punctate Porokeratosis 27
1037 FLY003 Flynn-Aird Syndrome 22
1038 MLN064 Melanoma of Soft Tissue 21
1039 ANL016 Anal Margin Carcinoma 20
1040 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 20
1041 ACT160 Actinic Lichen Planus 18
1042 c SYR009 Syringomas, Multiple 11
1043 ALG003 Al Gazali Aziz Salem Syndrome 11
1044 P CPL006 Capillary Hemangioma 56
1045 ANL017 Anal Squamous Cell Carcinoma 49
1046 P PRN020 Paranasal Sinus Cancer 44
1047 HDR004 Hidradenoma 41
1048 c HMN027 Hemangioma, Capillary Infantile 37
1049 KRT003 Keratinizing Squamous Cell Carcinoma 37
1050 ANG065 Angioma, Tufted 36
1051 SKN021 Skin Sarcoma 32
1052 ADN015 Adenoid Basal Cell Carcinoma 30
1053 MXL004 Maxillary Sinus Squamous Cell Carcinoma 28
1054 PGM002 Pigmented Basal Cell Carcinoma 28
1055 CTN027 Cutaneous Mastocytoma 27
1056 GLL015 Gallbladder Squamous Cell Carcinoma 27
1057 INF027 Infiltrative Basal Cell Carcinoma 26
1058 ECC001 Eccrine Papillary Adenocarcinoma 23
1059 PLM177 Pilomatrix Carcinoma 22
1060 CYS004 Cystic Basal Cell Carcinoma 22
1061 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 21
1062 CLR015 Clear Cell Basal Cell Carcinoma 21
1063 PNS010 Penis Squamous Cell Carcinoma 19
1064 CPL002 Capillary Lymphangioma 19
1065 P ACR049 Acrospiroma 18
1066 SPR023 Supraglottis Squamous Cell Carcinoma 17
1067 c MLG048 Malignant Acrospiroma 17
1068 ANG030 Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 17
1069 HLL006 Halal Setton Wang Syndrome 16
1070 ULR001 Ulerythema Ophryogenesis 15
1071 TRC017 Trachea Squamous Cell Carcinoma 14
1072 ANL007 Anal Margin Squamous Cell Carcinoma 13
1073 THY027 Thymus Squamous Cell Carcinoma 13
1074 GLT004 Glottis Squamous Cell Carcinoma 12
1075 MCR016 Micronodular Basal Cell Carcinoma 12
1076 SRC003 Sarcomatoid Basal Cell Carcinoma 12
1077 HRY007 Hairy Palms and Soles 11
1078 FRN005 Frontal Sinus Squamous Cell Carcinoma 11
1079 URT034 Urethra Squamous Cell Carcinoma 11
1080 PPL004 Papillary Squamous Carcinoma 10
1081 URT021 Ureter Squamous Cell Carcinoma 10
1082 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 9
1083 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 8
1084 ANL013 Anal Margin Basal Cell Carcinoma 8
1085 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 7
1086 SQR001 Sequeiros Sack Syndrome 7
1087 MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 7
1088 BSR001 Basaran Yilmaz Syndrome 7
1089 SBG004 Subglottis Squamous Cell Carcinoma 7
1090 GRB001 Grubben De Cock Borghgraef Syndrome 7
1091 TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 7
1092 CRN001 Cornea Squamous Cell Carcinoma 7
1093 SGN001 Signet Ring Basal Cell Carcinoma 6
1094 BRR007 Borrone Di Rocco Crovato Syndrome 6
1095 RYM001 Roy Maroteaux Kremp Syndrome 6
1096 BDH001 Boudhina Yedes Khiari Syndrome 6
1097 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
1098 MLN017 Milner Khallouf Gibson Syndrome 5
1099 ELL003 Elliott Ludman Teebi Syndrome 5
1100 SBC013 Sebaceous Basal Cell Carcinoma 5
1101 c PRN030 Paranasal Sinus Cancer, Adult 4
1102 c SYS001 Systemic Lupus Erythematosus 86
1103 P FNC027 Fanconi Anemia, Complementation Group a 78
1104 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1105 FBR012 Fabry Disease 72
1106 WRN001 Werner Syndrome 70
1107 CNT061 Conotruncal Heart Malformations 70
1108 P LPS004 Lupus Erythematosus 69
1109 P NRF023 Neurofibromatosis, Type Ii 69
1110 P CHR012 Chronic Granulomatous Disease 69
1111 P TBR001 Tuberous Sclerosis 69
1112 BHC003 Behcet Syndrome 68
1113 P PSD087 Pseudoxanthoma Elasticum 67
1114 CHD001 Chediak-Higashi Syndrome 67
1115 P PRT008 Proteus Syndrome 67
1116 CST001 Costello Syndrome 67
1117 P CWD001 Cowden Disease 67
1118 CHR063 Chronic Mucocutaneous Candidiasis 66
1119 P PSR002 Psoriasis 65
1120 c TBR026 Tuberous Sclerosis 2 65
1121 c MCP050 Mucopolysaccharidosis, Type Ii 64
1122 FBR011 Fibrodysplasia Ossificans Progressiva 64
1123 CRB011 Cerebrotendinous Xanthomatosis 64
1124 MST017 Mast Cell Disease 63
1125 c NRF024 Neurofibromatosis, Type I 63
1126 c TBR025 Tuberous Sclerosis 1 63
1127 HTC003 Hutchinson-Gilford Progeria Syndrome 62
1128 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 62
1129 VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 62
1130 LYM021 Lymphadenitis 62
1131 ELL001 Ellis-Van Creveld Syndrome 61
1132 DRR014 Darier-White Disease 60
1133 PRP083 Porphyria, Acute Intermittent 60
1134 DNH001 Donohue Syndrome 60
1135 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
1136 ACN002 Acanthosis Nigricans 60
1137 c PCH015 Pachyonychia Congenita 1 59
1138 ICH054 Ichthyosis, X-Linked 59
1139 HLC001 Holocarboxylase Synthetase Deficiency 59
1140 c SPN294 Spinocerebellar Ataxia 1 58
1141 PRT118 Protoporphyria, Erythropoietic 58
1142 P HLL001 Hallermann-Streiff Syndrome 58
1143 OCL020 Ocular Cicatricial Pemphigoid 58
1144 MVL001 Mevalonic Aciduria 57
1145 P WRD001 Waardenburg's Syndrome 57
1146 WLL006 Wells Syndrome 57
1147 P OCL013 Oculodentodigital Dysplasia 57
1148 ERD001 Erdheim-Chester Disease 57
1149 c FML116 Familial Cold Autoinflammatory Syndrome 1 56
1150 P PMP005 Pemphigus Vulgaris 56
1151 BTN003 Biotinidase Deficiency 56
1152 P CTN015 Cutaneous T Cell Lymphoma 56
1153 PRP082 Porphyria, Congenital Erythropoietic 56
1154 P SPN301 Spinocerebellar Ataxia 2 56
1155 PBL005 Piebald Trait 56
1156 ALK013 Alkaptonuria 56
1157 ARS001 Aarskog-Scott Syndrome 55
1158 c TYR012 Tyrosinemia, Type I 55
1159 P PMP001 Pemphigus 55
1160 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 54
1161 CLS005 Clouston Syndrome 54
1162 ERY017 Erythema Elevatum Diutinum 54
1163 LPD016 Lipoid Proteinosis of Urbach and Wiethe 54
1164 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54
1165 BRT002 Birt-Hogg-Dube Syndrome 54
1166 PRP032 Porphyria Variegata 54
1167 CCT002 Cicatricial Pemphigoid 54
1168 MLT135 Multiple Sulfatase Deficiency 54
1169 ART001 Arterial Tortuosity Syndrome 53
1170 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 53
1171 PLM026 Pilomatrixoma 53
1172 P FML012 Familial Partial Lipodystrophy 53
1173 P CRN108 Cranioectodermal Dysplasia 1 53
1174 P CHL069 Cholesteatoma 52
1175 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1176 c WRD030 Waardenburg Syndrome, Type 1 52
1177 c CCK007 Cockayne Syndrome B 52
1178 PST062 Pustulosis Palmaris Et Plantaris 52
1179 c SPN291 Spinocerebellar Ataxia 7 52
1180 P ADM011 Adams-Oliver Syndrome 52
1181 c CNG012 Congenital Generalized Lipodystrophy 51
1182 MLT145 Multiple Enchondromatosis, Maffucci Type 51
1183 P GND004 Gonadal Dysgenesis 50
1184 P PSD015 Pseudohypoparathyroidism 50
1185 BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50
1186 P INF049 Infantile Myofibromatosis 49
1187 OCC006 Occipital Horn Syndrome 49
1188 P PRK001 Porokeratosis 49
1189 HYP088 Hyper-Igd Syndrome 49
1190 ACT164 Actinic Prurigo 49
1191 NLX004 Neu-Laxova Syndrome 1 49
1192 P KRT005 Keratoacanthoma 49
1193 P LSS002 Lissencephaly 49
1194 P PTY003 Pityriasis Rubra Pilaris 48
1195 c CCK008 Cockayne Syndrome a 48
1196 LCH011 Lichen Planopilaris 48
1197 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 48
1198 HRT031 Hartnup Disorder 48
1199 P TYR004 Tyrosinemia 48
1200 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48
1201 c SPN309 Spinocerebellar Ataxia 6 48
1202 ENC010 Encephalocraniocutaneous Lipomatosis 48
1203 c PCH012 Pachyonychia Congenita 2 47
1204 c SPN293 Spinocerebellar Ataxia 12 47
1205 c HRM005 Hermansky-Pudlak Syndrome 1 47
1206 NDL003 Nodular Nonsuppurative Panniculitis 47
1207 KRT071 Keratosis, Seborrheic 47
1208 MNL001 Monilethrix 47
1209 c ALB021 Albinism, Oculocutaneous, Type Ii 47
1210 c HRM006 Hermansky-Pudlak Syndrome 3 47
1211 c SPN296 Spinocerebellar Ataxia 17 46
1212 c LSS005 Lissencephaly 1 46
1213 FRB001 Farber Lipogranulomatosis 46
1214 c WRD020 Waardenburg Syndrome, Type 4a 46
1215 c SPN314 Spinocerebellar Ataxia 10 46
1216 PMP004 Pemphigus Foliaceus 46
1217 PYG006 Pyogenic Granuloma 45
1218 SYR002 Syringocystadenoma Papilliferum 45
1219 c TYR013 Tyrosinemia, Type Ii 45
1220 P ACQ022 Acquired Generalized Lipodystrophy 45
1221 c 46X001 46 Xy Gonadal Dysgenesis 45
1222 P PRV002 Periventricular Nodular Heterotopia 44
1223 DFF001 Diffuse Cutaneous Mastocytosis 44
1224 c SPN100 Spinocerebellar Ataxia 27 44
1225 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 44
1226 P PLL002 Pellagra 44
1227 STT007 Steatocystoma Multiplex 44
1228 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1229 c SPN305 Spinocerebellar Ataxia 11 43
1230 ERY004 Erysipelas 43
1231 c SPN312 Spinocerebellar Ataxia 14 43
1232 P DYS023 Dyschromatosis Universalis Hereditaria 42
1233 c SPN311 Spinocerebellar Ataxia 13 42
1234 MLK003 Melkersson-Rosenthal Syndrome 42
1235 SWT003 Sweat Gland Disease 42
1236 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 42
1237 c HRM008 Hermansky-Pudlak Syndrome 5 41
1238 PRL019 Prolidase Deficiency 41
1239 c ALB009 Albinism, Oculocutaneous, Type Ia 41
1240 c PRK082 Porokeratosis 1, Multiple Types 41
1241 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
1242 c SPN265 Spinocerebellar Ataxia 36 41
1243 c SPN103 Spinocerebellar Ataxia 31 40
1244 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 40
1245 c SPN290 Spinocerebellar Ataxia 15 40
1246 FXF002 Fox-Fordyce Disease 40
1247 c SPN106 Spinocerebellar Ataxia 5 40
1248 ALP097 Alopecia Universalis Congenita 40
1249 GRN007 Granuloma Annulare 40
1250 PMP002 Pemphigoid Gestationis 40
1251 c TYR011 Tyrosinemia, Type Iii 39
1252 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 39
1253 BLR027 Blue Rubber Bleb Nevus 39
1254 c PSD117 Pseudohypoparathyroidism, Type Ic 39
1255 PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 39
1256 ICH020 Ichthyosis Prematurity Syndrome 39
1257 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 39
1258 PRR013 Prurigo Nodularis 39
1259 MLT002 Multiple Symmetrical Lipomatosis 39
1260 P UVS001 Uv-Sensitive Syndrome 38
1261 c SPN308 Spinocerebellar Ataxia 28 38
1262 c LPD019 Lipodystrophy, Partial, Acquired 38
1263 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
1264 SBC017 Sebaceous Gland Disease 38
1265 c PCH010 Pachyonychia Congenita 3 38
1266 PRL042 Proliferating Trichilemmal Cyst 38
1267 XNT009 Xanthoma Disseminatum 38
1268 c ADM005 Adams-Oliver Syndrome 1 38
1269 PRK003 Parkes Weber Syndrome 38
1270 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37
1271 c WRD032 Waardenburg Syndrome, Type 2a 37
1272 ORL022 Oral Erosive Lichen 36
1273 c MYF007 Myofibromatosis, Infantile, 1 36
1274 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 36
1275 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
1276 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
1277 LCH013 Lichen Planus Pemphigoides 36
1278 c SPN304 Spinocerebellar Ataxia 8 36
1279 c SPN094 Spinocerebellar Ataxia 18 36
1280 LSS001 Loiasis 36
1281 NVS015 Nevus Comedonicus 36
1282 WYR002 Weyers Acrofacial Dysostosis 36
1283 CTS011 Cutis Marmorata Telangiectatica Congenita 36
1284 c SPN097 Spinocerebellar Ataxia 23 36
1285 PLV001 Pelvic Lipomatosis 35
1286 c SYS061 Systemic Lupus Erythematosus 16 35
1287 VBR001 Vibratory Urticaria 35
1288 NCR002 Necrobiosis Lipoidica 35
1289 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 35
1290 c SPN299 Spinocerebellar Ataxia 20 35
1291 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 35
1292 ANH001 Ainhum 34
1293 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 34
1294 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 34
1295 SCL025 Scleromyxedema 34
1296 c WRD031 Waardenburg Syndrome, Type 3 34
1297 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 34
1298 c PSD104 Pseudohypoparathyroidism, Type Ii 34
1299 ELS002 Elastosis Perforans Serpiginosa 34
1300 c HRM009 Hermansky-Pudlak Syndrome 6 33
1301 P UNC017 Uncombable Hair Syndrome 1 33
1302 MLG141 Malignant Atrophic Papulosis 33
1303 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 33
1304 HYP137 Hypotrichosis Simplex 33
1305 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33
1306 c WRD010 Waardenburg Syndrome Type 4 33
1307 WTK002 Witkop Syndrome 33
1308 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 33
1309 ICH073 Ichthyosis Hystrix, Curth-Macklin Type 33
1310 c ALB010 Albinism, Oculocutaneous, Type Ib 32
1311 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 32
1312 c FNC028 Fanconi Anemia, Complementation Group L 32
1313 INF046 Infantile Digital Fibromatosis 32
1314 c HRM012 Hermansky-Pudlak Syndrome 9 32
1315 PRG023 Progeroid Short Stature with Pigmented Nevi 32
1316 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 32
1317 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
1318 c WRD024 Waardenburg Syndrome, Type 4c 32
1319 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 32
1320 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
1321 c SPN104 Spinocerebellar Ataxia 34 32
1322 c SYS043 Systemic Lupus Erythematosus 1 32
1323 c SPN101 Spinocerebellar Ataxia 29 31
1324 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
1325 PRM129 Primary Cutaneous Marginal Zone B-Cell Lymphoma 31
1326 GRL004 Gorlin-Chaudhry-Moss Syndrome 31
1327 P EHL081 Ehlers-Danlos Syndrome, Classic-Like 31
1328 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 31
1329 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 31
1330 c SPN266 Spinocerebellar Ataxia 35 31
1331 ALP048 Alopecia Totalis 31
1332 c LSS006 Lissencephaly 2 31
1333 OCL033 Oculocerebral Syndrome with Hypopigmentation 31
1334 c LSS010 Lissencephaly 4 31
1335 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30
1336 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 30
1337 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 30
1338 c PRV019 Periventricular Nodular Heterotopia 1 30
1339 c SPN099 Spinocerebellar Ataxia 26 30
1340 c SPN105 Spinocerebellar Ataxia 4 30
1341 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 30
1342 OCL039 Oculoectodermal Syndrome 30
1343 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30
1344 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 30
1345 c SPN095 Spinocerebellar Ataxia 19 30
1346 c CCK003 Cockayne Syndrome Type Ii 30
1347 c PCH011 Pachyonychia Congenita 4 30
1348 PRG123 Progeroid Syndrome, Neonatal 30
1349 MCP039 Mucoepithelial Dysplasia, Hereditary 30
1350 c HRM020 Hermansky-Pudlak Syndrome 10 30
1351 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
1352 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 30
1353 P FML313 Familial Progressive Hyperpigmentation 30
1354 c SPN096 Spinocerebellar Ataxia 21 30
1355 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
1356 c SPN283 Spinocerebellar Ataxia 37 29
1357 c WRD019 Waardenburg Syndrome, Type 4b 29
1358 CBB002 Cobb Syndrome 29
1359 LPD026 Lipedema 29
1360 c HRM010 Hermansky-Pudlak Syndrome 7 29
1361 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1362 c ALB020 Albinism, Oculocutaneous, Type Iii 29
1363 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
1364 c DYS139 Dyschromatosis Universalis Hereditaria 3 29
1365 P XLN161 X-Linked Chondrodysplasia Punctata 29
1366 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 29
1367 LMB008 Limb-Mammary Syndrome 29
1368 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
1369 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28
1370 c CCK002 Cockayne Syndrome Type I 28
1371 PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 28
1372 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 28
1373 QNQ001 Quinquaud's Decalvans Folliculitis 28
1374 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 28
1375 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1376 HYP160 Hyperkeratosis Lenticularis Perstans 28
1377 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 28
1378 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 28
1379 c HRM007 Hermansky-Pudlak Syndrome 4 28
1380 c HRM011 Hermansky-Pudlak Syndrome 8 28
1381 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 28
1382 c SPN284 Spinocerebellar Ataxia 38 27
1383 c SPN372 Spinocerebellar Ataxia 43 27
1384 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27
1385 PSD043 Pseudopelade of Brocq 27
1386 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
1387 FRN020 Frontal Fibrosing Alopecia 27
1388 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 27
1389 c FNC023 Fanconi Anemia, Complementation Group N 27
1390 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 27
1391 TRC118 Trichodentoosseous Syndrome 27
1392 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 27
1393 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 27
1394 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1395 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
1396 LSN002 Loose Anagen Hair Syndrome 27
1397 P KRT014 Keratosis Follicularis Spinulosa Decalvans 27
1398 RNG030 Ringed Hair 27
1399 SCL022 Scleredema 27
1400 HRY005 Hairy Elbows 27
1401 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 26
1402 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
1403 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26
1404 NCR009 Necrobiotic Xanthogranuloma 26
1405 c SPN247 Spinocerebellar Ataxia Type 19/22 26
1406 c PMP006 Pemphigus Vulgaris, Familial 26
1407 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
1408 c PRT063 Proteus-Like Syndrome 26
1409 c SPN098 Spinocerebellar Ataxia 25 26
1410 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
1411 c CCK004 Cockayne Syndrome Type Iii 26
1412 STN012 Sting-Associated Vasculopathy, Infantile-Onset 26
1413 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
1414 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
1415 HYP180 Hypertrichosis Lanuginosa Congenita 26
1416 HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 25
1417 c SPN383 Spinocerebellar Ataxia 42 25
1418 ECC005 Eccrine Adenocarcinoma 25
1419 c FNC046 Fanconi Anemia, Complementation Group P 25
1420 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
1421 c CRN109 Cranioectodermal Dysplasia 2 25
1422 c FNC029 Fanconi Anemia, Complementation Group I 25
1423 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 25
1424 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1425 ALL007 Allergic Urticaria 25
1426 KRN007 Kerion Celsi 25
1427 LLS001 Lelis Syndrome 24
1428 c SPN286 Spinocerebellar Ataxia 40 24
1429 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 24
1430 c LSS025 Lissencephaly 5 24
1431 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1432 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1433 c FNC047 Fanconi Anemia, Complementation Group Q 24
1434 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1435 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1436 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 24
1437 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24
1438 PTY006 Pityriasis Lichenoides Et Varioliformis Acuta 24
1439 c CRN111 Cranioectodermal Dysplasia 4 24
1440 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
1441 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 23
1442 c PHL010 Peho-Like Syndrome 23
1443 CRT034 Corticosteroid-Sensitive Aseptic Abscesses 23
1444 GRD004 Gardner-Diamond Syndrome 23
1445 c WRD029 Waardenburg Syndrome, Type 2b 23
1446 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 23
1447 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 23
1448 TBS009 Teebi-Shaltout Syndrome 23
1449 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 23
1450 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 23
1451 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 23
1452 c CRN110 Cranioectodermal Dysplasia 3 23
1453 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 23
1454 LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 23
1455 c ADM007 Adams-Oliver Syndrome 2 23
1456 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 22
1457 NVD003 Nevoid Hypermelanosis, Linear and Whorled 22
1458 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
1459 LPS019 Lupus Erythematosus Tumidus 22
1460 c ADM010 Adams-Oliver Syndrome 5 22
1461 ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 22
1462 LCH008 Lichen Planus Pigmentosus 22
1463 c PRK080 Porokeratosis 3, Multiple Types 22
1464 c LSS009 Lissencephaly 3 22
1465 P HYD015 Hydroa Vacciniforme 22
1466 c FNC048 Fanconi Anemia, Complementation Group O 22
1467 c FML117 Familial Cold Autoinflammatory Syndrome 2 22
1468 ACK001 Ackerman Syndrome 22
1469 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 22
1470 c SPN323 Spinocerebellar Ataxia 41 22
1471 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 22
1472 c ADM012 Adams-Oliver Syndrome 6 22
1473 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1474 c SPN259 Spinocerebellar Ataxia 32 21
1475 LDD006 Ledderhose Disease 21
1476 c LSS035 Lissencephaly 8 21
1477 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1478 c WRD022 Waardenburg Syndrome, Type 2d 21
1479 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 21
1480 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1481 ART037 Arthrogryposis and Ectodermal Dysplasia 21
1482 c FNC025 Fanconi Anemia, Complementation Group J 21
1483 c SPN102 Spinocerebellar Ataxia 30 21
1484 c ADM009 Adams-Oliver Syndrome 4 21
1485 c PRV018 Periventricular Nodular Heterotopia 7 21
1486 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
1487 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 21
1488 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 21
1489 c FNC057 Fanconi Anemia, Complementation Group U 21
1490 P FML337 Familial Chilblain Lupus 21
1491 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20
1492 c FNC058 Fanconi Anemia, Complementation Group R 20
1493 PRM128 Primary Cutaneous Follicle Center Lymphoma 20
1494 c FNC052 Fanconi Anemia, Complementation Group T 20
1495 c SPN418 Spinocerebellar Ataxia 44 20
1496 RDR002 Rodrigues Blindness 20
1497 c ADM008 Adams-Oliver Syndrome 3 20
1498 c SPN107 Spinocerebellar Ataxia 9 20
1499 c FNC056 Fanconi Anemia, Complementation Group V 20
1500 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
1501 c SYS038 Systemic Lupus Erythematosus 2 19
1502 PTY005 Pityriasis Lichenoides Chronica 19
1503 MRN005 Marie Unna Congenital Hypotrichosis 19
1504 HYP489 Hypotrichosis-Deafness Syndrome 19
1505 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 19
1506 c VRL008 Viral Exanthem 19
1507 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
1508 LNR010 Linear Lichen Planus 19
1509 HYP181 Hypertrichosis Lanuginosa, Acquired 19
1510 c PLL014 Pellagra-Like Syndrome 19
1511 PTR029 Pterygium, Antecubital 19
1512 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 19
1513 c UVS005 Uv-Sensitive Syndrome 1 18
1514 c PRV016 Periventricular Nodular Heterotopia 6 18
1515 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1516 ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 18
1517 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 18
1518 c FML223 Familial Keratoacanthoma 18
1519 LNT008 Lentiginosis, Inherited Patterned 18
1520 c WRD026 Waardenburg Syndrome, Type 2c 18
1521 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 18
1522 c PRK084 Porokeratosis 6, Multiple Types 18
1523 ACR039 Acromegaloid Hypertrichosis Syndrome 18
1524 c PRK075 Porokeratosis 7, Multiple Types 18
1525 PBL004 Piebald Trait with Neurologic Defects 18
1526 PNH003 Pinheiro Freire-Maia Miranda Syndrome 18
1527 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
1528 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 17
1529 OTN001 Otoonychoperoneal Syndrome 17
1530 BKS002 Book Syndrome 17
1531 c UVS003 Uv-Sensitive Syndrome 3 17
1532 c SYS069 Systemic Lupus Erythematosus 6 17
1533 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 17
1534 SCL051 Scalp Defects and Postaxial Polydactyly 17
1535 c SPN336 Spinocerebellar Ataxia Type 16 17
1536 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 17
1537 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 17
1538 PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 17
1539 ELS005 Elastoma 16
1540 c MYF010 Myofibromatosis, Infantile, 2 16
1541 PLD002 Pilodental Dysplasia with Refractive Errors 16
1542 PLT010 Pili Torti Onychodysplasia 16
1543 c SPN420 Spinocerebellar Ataxia 46 16
1544 c FNC061 Fanconi Anemia, Complementation Group W 16
1545 TRC052 Trichofolliculoma 16
1546 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 16
1547 c FML270 Familial Cold Autoinflammatory Syndrome 4 16
1548 c UVS004 Uv-Sensitive Syndrome 2 16
1549 ATR052 Atrophic Lichen Planus 16
1550 c HYP563 Hyperpigmentation, Familial Progressive, 1 16
1551 AML012 Ameloonychohypohidrotic Syndrome 16
1552 c SYS040 Systemic Lupus Erythematosus 10 16
1553 ICH012 Ichthyosis Hystrix Gravior 15
1554 P NNP004 Nonphotosensitive Trichothiodystrophy 15
1555 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 15
1556 ODN008 Odontomicronychial Dysplasia 15
1557 ANN014 Annular Lichen Planus 15
1558 c DYS090 Dyschromatosis Universalis Hereditaria 1 15
1559 c UNC019 Uncombable Hair Syndrome 2 15
1560 HYP182 Hypertrichosis, Anterior Cervical 15
1561 c SYS053 Systemic Lupus Erythematosus 5 15
1562 c SYS041 Systemic Lupus Erythematosus 9 15
1563 c SPN419 Spinocerebellar Ataxia 45 15
1564 PLT021 Pili Torti and Developmental Delay 15
1565 c UNC018 Uncombable Hair Syndrome 3 14
1566 ORL024 Oral and Digital Anomalies with Ichthyosis 14
1567 c CHN017 Chondrodysplasia Punctata 1, X-Linked 14
1568 c SYS046 Systemic Lupus Erythematosus 3 14
1569 c SYS065 Systemic Lupus Erythematosus 11 14
1570 c FML348 Familial Pityriasis Rubra Pilaris 14
1571 c SYS055 Systemic Lupus Erythematosus 12 14
1572 c PRK074 Porokeratosis 9, Multiple Types 14
1573 ODN004 Odonto Onycho Dysplasia with Alopecia 14
1574 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 14
1575 c SYS051 Systemic Lupus Erythematosus 4 13
1576 PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 13
1577 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 13
1578 ANN013 Annular Atrophic Lichen Planus 13
1579 CHR175 Chromhidrosis 12
1580 SCL044 Scalp Syndrome 12
1581 ACR040 Acromelanosis 12
1582 c 46X002 46 Xx Gonadal Dysgenesis 12
1583 P PCH020 Pachyonychia Congenita, Autosomal Recessive 12
1584 c SYS045 Systemic Lupus Erythematosus 14 11
1585 c SYS052 Systemic Lupus Erythematosus 13 11
1586 c SYS048 Systemic Lupus Erythematosus 8 11
1587 c SYS047 Systemic Lupus Erythematosus 7 11
1588 c SYS067 Systemic Lupus Erythematosus 15 11
1589 ONY004 Onychocytic Matricoma 11
1590 HYP742 Hyperpigmentation of Eyelids 11
1591 CHL021 Cholesteatoma of External Ear 11
1592 ONY006 Onychodystrophy-Anonychia 11
1593 ALP049 Alopecia Antibody Deficiency 11
1594 c DYS091 Dyschromatosis Universalis Hereditaria 2 10
1595 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 10
1596 c HYD016 Hydroa Vacciniforme, Familial 10
1597 c HLL012 Hallermann-Streiff-Like Syndrome 10
1598 GNN001 Genuine Diffuse Phlebectasia 10
1599 PMP003 Pemphigus and Fogo Selvagem 9
1600 c EHL035 Ehlers-Danlos Syndrome, Kyphoscoliotic Form 9
1601 RCH009 Roch-Leri Mesosomatous Lipomatosis 9
1602 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 9
1603 c EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 9
1604 ACH007 Achenbach Syndrome 8
1605 c CHL138 Cholesteatoma, Congenital 7
1606 HYP046 Hypopigmentation of Eyelid 7
1607 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
1608 ERY052 Erythrokeratodermia-Cardiomyopathy Syndrome 7
1609 c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7
1610 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 7
1611 CRM003 Ceruminous Carcinoma 7
1612 VRR005 Verrucous Nevus Acanthokeratolytic 6
1613 c OCL037 Oculodentodigital Dysplasia Dominant 4
1614 CYL004 Cylindromatosis, Familial 29
1615 BLS001 Blau Syndrome 60
1616 TYL002 Tylosis with Esophageal Cancer 28
1617 DRM050 Dermographism, Familial 19
1618 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 10
1619 MCC012 Mccune-Albright Syndrome 65
1620 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
1621 BP1002 Bap1 Tumor Predisposition Syndrome 33
1622 PFF001 Pfeiffer Syndrome 74
1623 P GRS003 Griscelli Syndrome 58
1624 c GRS014 Griscelli Syndrome, Type 2 49
1625 c GRS013 Griscelli Syndrome, Type 1 47
1626 c GRS012 Griscelli Syndrome, Type 3 38
1627 CRR017 Curry-Jones Syndrome 33
1628 ADR007 Adrenoleukodystrophy 72
1629 SZR001 Sezary's Disease 58
1630 DSC014 Discoid Fibromas, Familial Multiple 17
1631 P CND004 Candidiasis 61
1632 LYM008 Lymphangiosarcoma 51
1633 ECC004 Eccrine Porocarcinoma 38
1634 FRN039 Frank-Ter Haar Syndrome 37
1635 c CND034 Candidiasis, Familial, 2 35
1636 c CND036 Candidiasis, Familial, 4 24
1637 c CND033 Candidiasis, Familial, 1 22
1638 c CND025 Candidiasis, Familial, 8 21
1639 c CND037 Candidiasis, Familial, 6 19
1640 c FML334 Familial Candidiasis 18
1641 c CND031 Candidiasis, Familial, 9 17
1642 c CND027 Candidiasis, Familial, 3 16
1643 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 15
1644 LNG039 Lung Squamous Cell Carcinoma 60
1645 P TRC102 Trichothiodystrophy 1, Photosensitive 59
1646 BLD047 Bladder Squamous Cell Carcinoma 43
1647 CPL013 Capillary Malformations, Congenital 39
1648 OST014 Osteopoikilosis 39
1649 P MNT319 Mental Retardation, Autosomal Dominant 20 28
1650 BSL044 Basal Cell Carcinoma, Infundibulocystic 27
1651 c MNT185 Mental Retardation, Autosomal Dominant 7 26
1652 c MNT212 Mental Retardation, Autosomal Dominant 26 26
1653 c MNT210 Mental Retardation, Autosomal Recessive 42 25
1654 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1655 c MNT145 Mental Retardation, Autosomal Recessive 5 24
1656 c MNT157 Mental Retardation, Autosomal Dominant 18 24
1657 MDD007 Middle Ear Squamous Cell Carcinoma 24
1658 c MNT280 Mental Retardation, Autosomal Dominant 43 24
1659 c MNT143 Mental Retardation, Autosomal Dominant 13 23
1660 c MNT246 Mental Retardation, Autosomal Dominant 38 23
1661 c MNT241 Mental Retardation, Autosomal Dominant 32 23
1662 c MNT270 Mental Retardation, Autosomal Recessive 53 23
1663 c MNT321 Mental Retardation, Autosomal Recessive 37 22
1664 c MNT214 Mental Retardation, Autosomal Dominant 24 22
1665 c MNT262 Mental Retardation, Autosomal Dominant 42 22
1666 c MNT176 Mental Retardation, Autosomal Recessive 38 22
1667 c MNT322 Mental Retardation, Autosomal Dominant 27 22
1668 c MNT226 Mental Retardation, Autosomal Dominant 31 22
1669 c MNT213 Mental Retardation, Autosomal Recessive 40 22
1670 c MNT242 Mental Retardation, Autosomal Dominant 40 22
1671 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1672 c MNT150 Mental Retardation, Autosomal Recessive 15 22
1673 c MNT166 Mental Retardation, Autosomal Recessive 39 21
1674 c MNT222 Mental Retardation, Autosomal Dominant 29 21
1675 c MNT273 Mental Retardation, Autosomal Dominant 44 21
1676 c TRC100 Trichothiodystrophy 3, Photosensitive 21
1677 c MNT221 Mental Retardation, Autosomal Recessive 44 21
1678 c MNT234 Mental Retardation, Autosomal Recessive 48 21
1679 c MNT216 Mental Retardation, Autosomal Recessive 41 21
1680 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1681 c MNT211 Mental Retardation, Autosomal Dominant 23 21
1682 c MNT159 Mental Retardation, Autosomal Dominant 19 20
1683 c MNT238 Mental Retardation, Autosomal Dominant 34 20
1684 c MNT219 Mental Retardation, Autosomal Dominant 30 20
1685 c MNT287 Mental Retardation, Autosomal Recessive 57 20
1686 c MNT183 Mental Retardation, Autosomal Recessive 36 20
1687 c MNT227 Mental Retardation, Autosomal Recessive 46 20
1688 c MNT244 Mental Retardation, Autosomal Recessive 49 20
1689 c MNT177 Mental Retardation, Autosomal Recessive 27 20
1690 c MNT282 Mental Retardation, Autosomal Recessive 55 20
1691 c MNT239 Mental Retardation, Autosomal Dominant 35 20
1692 CLN009 Colon Squamous Cell Carcinoma 20
1693 c MNT179 Mental Retardation, Autosomal Dominant 21 20
1694 c MNT155 Mental Retardation, Autosomal Recessive 2 20
1695 c MNT236 Mental Retardation, Autosomal Dominant 39 19
1696 c MNT275 Mental Retardation, Autosomal Recessive 60 19
1697 c MNT245 Mental Retardation, Autosomal Dominant 36 19
1698 c MNT220 Mental Retardation, Autosomal Recessive 45 19
1699 c MNT154 Mental Retardation, Autosomal Recessive 14 19
1700 c MNT162 Mental Retardation, Autosomal Recessive 24 19
1701 c MNT240 Mental Retardation, Autosomal Dominant 33 19
1702 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1703 c MNT225 Mental Retardation, Autosomal Recessive 47 19
1704 c MNT215 Mental Retardation, Autosomal Recessive 43 19
1705 c MNT172 Mental Retardation, Autosomal Recessive 25 18
1706 c MNT325 Mental Retardation, Autosomal Recessive 61 18
1707 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1708 c MNT165 Mental Retardation, Autosomal Recessive 28 18
1709 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1710 c MNT263 Mental Retardation, Autosomal Recessive 51 18
1711 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1712 c MNT182 Mental Retardation, Autosomal Recessive 19 18
1713 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1714 c MNT272 Mental Retardation, Autosomal Dominant 41 18
1715 c TRC099 Trichothiodystrophy 2, Photosensitive 18
1716 c MNT281 Mental Retardation, Autosomal Recessive 59 17
1717 c MNT279 Mental Retardation, Autosomal Dominant 47 17
1718 c MNT170 Mental Retardation, Autosomal Recessive 23 17
1719 c MNT286 Mental Retardation, Autosomal Dominant 45 17
1720 c MNT151 Mental Retardation, Autosomal Recessive 18 17
1721 c MNT243 Mental Retardation, Autosomal Recessive 50 17
1722 c MNT161 Mental Retardation, Autosomal Recessive 29 17
1723 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1724 c MNT328 Mental Retardation, Autosomal Dominant 52 16
1725 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1726 c MNT324 Mental Retardation, Autosomal Dominant 49 16
1727 c MNT278 Mental Retardation, Autosomal Dominant 46 16
1728 c MNT184 Mental Retardation, Autosomal Dominant 11 16
1729 c MNT186 Mental Retardation, Autosomal Dominant 10 16
1730 c MNT323 Mental Retardation, Autosomal Dominant 48 15
1731 c MNT329 Mental Retardation, Autosomal Dominant 53 15
1732 c MNT327 Mental Retardation, Autosomal Dominant 51 15
1733 c MNT330 Mental Retardation, Autosomal Dominant 54 15
1734 c MNT326 Mental Retardation, Autosomal Dominant 50 14
1735 RNL009 Renal Pelvis Squamous Cell Carcinoma 14
1736 c MNT332 Mental Retardation, Autosomal Dominant 56 12
1737 DNT019 Daentl Towsend Siegel Syndrome 9
1738 TLF001 Telfer Sugar Jaeger Syndrome 8
1739 EXT016 External Ear Squamous Cell Carcinoma 7
1740 LCR007 Lacrimal Gland Squamous Cell Carcinoma 7
1741 TNG005 Tang Hsi Ryu Syndrome 7
1742 P ATX030 Ataxia-Telangiectasia 80
1743 P NNN008 Noonan Syndrome 1 77
1744 MYC006 Mycosis Fungoides 73
1745 PTZ001 Peutz-Jeghers Syndrome 70
1746 P DYS007 Dyskeratosis Congenita 68
1747 P CRD224 Cardiofaciocutaneous Syndrome 1 65
1748 P CCK001 Cockayne Syndrome 64
1749 P ALP009 Alopecia Areata 64
1750 MNK001 Menkes Disease 64
1751 RFS006 Refsum Disease, Classic 63
1752 P HRM001 Hermansky-Pudlak Syndrome 62
1753 CNC002 Cinca Syndrome 62
1754 KLP010 Klippel-Trenaunay-Weber Syndrome 60
1755 c HRD002 Hereditary Angioedema 59
1756 PRD013 Periodic Fever, Familial, Autosomal Dominant 59
1757 LCR014 Lacrimoauriculodentodigital Syndrome 59
1758 STR039 Sturge-Weber Syndrome 59
1759 INC021 Incontinentia Pigmenti 57
1760 c PSD108 Pseudohypoparathyroidism, Type Ia 57
1761 P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56
1762 NPH018 Nephrogenic Systemic Fibrosis 56
1763 NLP001 Nail-Patella Syndrome 56
1764 CHR288 Chronic Recurrent Multifocal Osteomyelitis 55
1765 c LPD015 Lipodystrophy, Familial Partial, Type 2 55
1766 P FML052 Familial Cold Autoinflammatory Syndrome 55
1767 CPR004 Coproporphyria, Hereditary 54
1768 P SHR029 Short Syndrome 54
1769 HDR002 Hidradenitis Suppurativa 54
1770 SPH001 Sapho Syndrome 54
1771 ERY008 Erythromelalgia 53
1772 YLL001 Yellow Nail Syndrome 53
1773 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53
1774 c BNG091 Benign Chronic Pemphigus 52
1775 LGS001 Legius Syndrome 52
1776 TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 50
1777 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 50
1778 DYS022 Dyschromatosis Symmetrica Hereditaria 49
1779 NNN026 Noonan Syndrome with Multiple Lentigines 49
1780 SND002 Sneddon Syndrome 48
1781 KMR001 Kimura Disease 48
1782 P PRM001 Primary Cutaneous Amyloidosis 48
1783 NRF008 Neurofibromatosis-Noonan Syndrome 47
1784 VCS001 Vici Syndrome 46
1785 CHR105 Choreoacanthocytosis 46
1786 FML091 Familial Tumoral Calcinosis 46
1787 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 45
1788 LYM052 Lymphomatoid Papulosis 45
1789 c HRM017 Hermansky-Pudlak Syndrome 2 45
1790 KDS001 Kid Syndrome 44
1791 c SHR030 Short Qt Syndrome 42
1792 c NNN010 Noonan Syndrome 3 42
1793 ADP001 Adiposis Dolorosa 42
1794 NRL002 Neurilemmomatosis 41
1795 P BLP047 Blepharocheilodontic Syndrome 1 41
1796 SBC011 Sebaceous Adenocarcinoma 41
1797 HYL004 Hyaline Fibromatosis Syndrome 40
1798 TRC077 Trichomegaly 40
1799 c NNN012 Noonan Syndrome 5 39
1800 MLN073 Melanosis, Neurocutaneous 38
1801 LPM010 Lipomatosis, Multiple Symmetric 38
1802 GPS001 Gapo Syndrome 36
1803 SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 36
1804 CLD011 Cold Urticaria 36
1805 c LPD021 Lipodystrophy, Familial Partial, Type 3 36
1806 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 36
1807 LVD002 Livedoid Vasculopathy 36
1808 P WLL010 Woolly Hair Syndrome 36
1809 P PHS005 Peho Syndrome 36
1810 SWT002 Sweat Gland Cancer 35
1811 CHL073 Cholestasis-Lymphedema Syndrome 35
1812 GTT002 Guttate Psoriasis 35
1813 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 35
1814 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 34
1815 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
1816 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 34
1817 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 34
1818 c FML294 Familial Short Qt Syndrome 34
1819 ACR025 Acrocephalopolydactylous Dysplasia 33
1820 DFN007 Deafness Enamel Hypoplasia Nail Defects 32
1821 STY001 Satoyoshi Syndrome 32
1822 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 32
1823 PHC006 Phacomatosis Pigmentovascularis 31
1824 GCH018 Gaucher Disease, Perinatal Lethal 31
1825 c DYS039 Dyskeratosis Congenita Autosomal Dominant 30
1826 P MLT048 Multiple Familial Trichoepithelioma 30
1827 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 30
1828 EXT048 Extranodal Nasal Nk/t Cell Lymphoma 29
1829 c NNN011 Noonan Syndrome 4 29
1830 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 28
1831 c FML253 Familial Cold Autoinflammatory Syndrome 3 28
1832 P ALB003 Albinism-Deafness Syndrome 28
1833 c LPD040 Lipodystrophy, Familial Partial, Type 1 28
1834 c NNN021 Noonan Syndrome 8 27
1835 NST002 Nestor-Guillermo Progeria Syndrome 27
1836 c ALP039 Alopecia Areata 1 27
1837 c NNN025 Noonan Syndrome 10 26
1838 PRF005 Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 26
1839 c DYS040 Dyskeratosis Congenita Autosomal Recessive 26
1840 c NNN013 Noonan Syndrome 6 26
1841 ARD001 Aredyld 26
1842 CHL075 Cheilitis Glandularis 26
1843 c NNN009 Noonan Syndrome 2 26
1844 c NNN024 Noonan Syndrome 9 25
1845 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 25
1846 ADN077 Adenosine Deaminase 2 Deficiency 25
1847 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 24
1848 ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 24
1849 JNT001 Joint Laxity, Familial 24
1850 ACR034 Acrogeria, Gottron Type 23
1851 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 23
1852 c NNN020 Noonan Syndrome 7 23
1853 ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 23
1854 DRM023 Dermoodontodysplasia 22
1855 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 22
1856 c SHR032 Short Qt Syndrome 2 22
1857 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 22
1858 c SHR031 Short Qt Syndrome 1 21
1859 CTN030 Cutaneus Colagenous Vasculopathy 21
1860 CLL041 Collagenoma, Familial Cutaneous 21
1861 c TRC095 Trichoepithelioma, Multiple Familial, 1 21
1862 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 21
1863 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 21
1864 c CRD167 Cardiofaciocutaneous Syndrome 4 21
1865 c CRD164 Cardiofaciocutaneous Syndrome 3 21
1866 CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 21
1867 ALP089 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality 20
1868 STT008 Steatocystoma Multiplex with Natal Teeth 20
1869 CLL039 Collagenosis, Familial Reactive Perforating 20
1870 c CRD163 Cardiofaciocutaneous Syndrome 2 20
1871 c SHR033 Short Qt Syndrome 3 19
1872 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
1873 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1874 CRN075 Crandall Syndrome 18
1875 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 18
1876 ATP003 Atp6v0a2-Related Cutis Laxa 18
1877 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 18
1878 FLT007 Flotch Syndrome 18
1879 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 17
1880 GST056 Gastrocutaneous Syndrome 17
1881 ANG063 Angiolipomatosis, Familial 17
1882 CHM001 Cahmr Syndrome 17
1883 ZNC006 Zinc, Elevated Plasma 17
1884 c WLL035 Woolly Hair, Autosomal Recessive 3 17
1885 ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16
1886 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 16
1887 c WLL018 Woolly Hair, Autosomal Dominant 16
1888 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
1889 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 16
1890 HRD035 Hair Defect with Photosensitivity and Mental Retardation 16
1891 ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 16
1892 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 15
1893 MLN018 Moloney Syndrome 15
1894 c BLP049 Blepharocheilodontic Syndrome 2 15
1895 TTH022 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 15
1896 c TRC094 Trichoepithelioma, Multiple Familial, 2 14
1897 c ALP040 Alopecia Areata 2 13
1898 c DFN345 Deafness, Congenital, with Total Albinism 12
1899 MLT051 Multiple Fibrofolliculoma Familial 6
1900 ESP021 Esophageal Cancer 79
1901 SLV012 Salivary Gland Adenoid Cystic Carcinoma 54
1902 P WSK001 Wiskott-Aldrich Syndrome 76
1903 BSL036 Basal Cell Nevus Syndrome 67
1904 P PRP003 Porphyria Cutanea Tarda 67
1905 c ADL017 Adult T-Cell Leukemia 63
1906 MRK001 Merkel Cell Carcinoma 59
1907 MRT001 Muir-Torre Syndrome 59
1908 P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57
1909 OSS012 Osseous Heteroplasia, Progressive 57
1910 PSD014 Pseudopseudohypoparathyroidism 56
1911 P SJG002 Sjogren-Larsson Syndrome 52
1912 c WRD033 Waardenburg Syndrome, Type 2e 52
1913 c HMN021 Human T-Cell Leukemia Virus Type 1 52
1914 P TCL004 T-Cell Leukemia 50
1915 RSD004 Rosai-Dorfman Disease 48
1916 JHN001 Johanson-Blizzard Syndrome 48
1917 c ACT020 Acute T Cell Leukemia 48
1918 P WHT013 White Sponge Nevus 1 46
1919 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 45
1920 MRS002 Marshall Syndrome 45
1921 TTZ003 Tietz Albinism-Deafness Syndrome 44
1922 DBW001 Dubowitz Syndrome 44
1923 c HMN022 Human T-Cell Leukemia Virus Type 2 43
1924 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40
1925 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 40
1926 DBR002 De Barsy Syndrome 38
1927 APC004 Apocrine Adenocarcinoma 38
1928 SLT014 Salt and Pepper Developmental Regression Syndrome 37
1929 KHL003 Kohlschutter-Tonz Syndrome 37
1930 c LKM004 Leukemia, B-Cell, Chronic 37
1931 OLV004 Oliver-Mcfarlane Syndrome 33
1932 TMP011 Temple-Baraitser Syndrome 32
1933 BJR001 Bjornstad Syndrome 32
1934 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 30
1935 JHN004 Johnson Neuroectodermal Syndrome 30
1936 CMP075 Campomelia, Cumming Type 27
1937 LYM094 Lymphedema, Primary, with Myelodysplasia 27
1938 c WSK002 Wiskott-Aldrich Syndrome 2 27
1939 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26
1940 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 26
1941 SCR025 Scarf Syndrome 26
1942 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1943 c LKM005 Leukemia, T-Cell, Chronic 25
1944 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 25
1945 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
1946 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 23
1947 P ALP068 Alopecia-Intellectual Disability Syndrome 23
1948 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 22
1949 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 22
1950 CFL005 Cafe-Au-Lait Spots, Multiple 20
1951 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 20
1952 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 18
1953 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 18
1954 c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 17
1955 c WHT015 White Sponge Nevus 2 16
1956 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 15
1957 c ALP081 Alopecia Intellectual Disability Syndrome 2 8
1958 c HMN023 Human T-Cell Leukemia Virus Type 3 7
1959 c SJG003 Sjogren-Larsson-Like Syndrome 7
1960 MCK007 Muckle-Wells Syndrome 64
1961 HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 57
1962 WYB001 Wyburn Mason's Syndrome 27
1963 ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 19
1964 VND003 Van Den Bosch Syndrome 15
1965 P FML011 Familial Adenomatous Polyposis 71
1966 c FML346 Familial Adenomatous Polyposis 1 63
1967 c FML347 Familial Adenomatous Polyposis 2 24
1968 c FML339 Familial Adenomatous Polyposis 4 21
1969 c FML299 Familial Adenomatous Polyposis 3 21



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